Spinal Muscular Atrophy Type 1 (SMA )Type 1 is a severe, early-onset neuromuscular condition that typically leads to profound weakness and impaired bulbar function-affecting swallowing, feeding, speech, and airway protection. Historically, bulbar decline contributed significantly to early morbidity and mortality.
The advent of disease-modifying therapies (DMTs) such as nusinersen, zolgensma and risdiplam (also known as Spinraza, Zolgensma, and Evrysdi) sinersinhas altered the clinical course of SMA Type 1, with emerging evidence of motor improvement and increased survival. However, the impact of these therapies on bulbar function remains poorly understood, and standardised tools for its assessment are lacking.
Qualitative research which uses interviews with parents and carers offers an opportunity to capture nuanced caregiver perspectives, identify meaningful functional outcomes, and explore daily lived experiences in a way quantitative tools currently cannot.
This study will investigate the lived experiences of families managing feeding and communication in children with SMA Type 1.
The research will also aim to
1 Identify emotional, social issues experienced by families and practical support needs related to feeding and communication.
2\. Provide insights that can inform healthcare interventions and support
Parents/guardians of children with a diagnosis of SMA1 who have received any one or more disease modifying therapies[CE7.1][BA7.2][AB7.3]
Participants need to be able to carry out interview in English In addition to parents, grandparents or other relatives with full parental responsibility will be included
Parents/carers who require an interpreter will not be included within the study for reasons of time and cost and because parents may feel less able to be open and honest when communicating with the researcher through a third party.
Primary carer who is a foster carer or corporate parent (i.e. a looked after child) as they are not likely to have the same decision-making 'freedoms'.